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G
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Apoo
|
apolipoprotein O
|
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ISO
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ClinVar Annotator: match by term: Lactic acidosis
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ClinVar |
|
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NCBI chr X:59,157,971...59,262,940
Ensembl chr X:63,151,814...63,256,690
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G
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Atp5f1a
|
ATP synthase F1 subunit alpha
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|
ISO
|
ClinVar Annotator: match by term: Lactic acidosis
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ClinVar |
PMID:24954817 PMID:25741868 PMID:34483339 PMID:34954817 |
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NCBI chr18:73,567,537...73,575,473
Ensembl chr18:73,567,526...73,575,922
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G
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Dld
|
dihydrolipoamide dehydrogenase
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|
ISO
|
ClinVar Annotator: match by term: Lactic acidosis
|
ClinVar |
PMID:10448086 PMID:15712224 PMID:17404228 PMID:21558426 PMID:21930696 PMID:21996136 PMID:23995961 PMID:25741868 PMID:27544700 PMID:28492532 More...
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NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354
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G
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Dnm1l
|
dynamin 1-like
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17460227 |
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NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420
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G
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Mt-atp6
|
mitochondrially encoded ATP synthase membrane subunit 6
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ISO
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ClinVar Annotator: match by term: Seizures and lactic acidosis
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ClinVar |
PMID:8739943 PMID:12915481 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584
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G
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Mt-co3
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mitochondrially encoded cytochrome c oxidase III
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ISO
|
ClinVar Annotator: match by term: Seizures and lactic acidosis
|
ClinVar |
PMID:8739943 PMID:12915481 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367
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G
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Mt-nd6
|
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
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ISS
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|
MouseDO |
|
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049
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G
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Ndufa13
|
NADH:ubiquinone oxidoreductase subunit A13
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ISO
|
ClinVar Annotator: match by term: Lactic acidosis
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ClinVar |
PMID:25741868 PMID:32722639 |
|
NCBI chr16:19,560,526...19,567,500
Ensembl chr 7:32,257,006...32,257,492
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G
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Ndufs4
|
NADH:ubiquinone oxidoreductase subunit S4
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ISO
|
ClinVar Annotator: match by term: Lactic acidosis
|
ClinVar |
PMID:25741868 PMID:33093004 |
|
NCBI chr 2:47,684,420...47,794,914
Ensembl chr 2:47,684,406...47,794,931
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G
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Pdha1
|
pyruvate dehydrogenase E1 subunit alpha 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:2537010 |
|
NCBI chr X:38,509,158...38,522,986
Ensembl chr X:38,509,084...38,522,536
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G
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Plat
|
plasminogen activator, tissue type
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|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:25331496 |
|
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
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G
|
Pygl
|
glycogen phosphorylase L
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IAGP
|
DNA:mutation:multiple
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RGD |
PMID:17705025 |
RGD:11071447 |
NCBI chr 6:94,433,558...94,476,219
Ensembl chr 6:94,426,346...94,476,269
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|
G
|
Rrm2b
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19138848 |
|
NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670
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|
G
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Uqcrfs1
|
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
|
|
ISO
|
ClinVar Annotator: match by term: Lactic acidosis
|
ClinVar |
PMID:31883641 |
|
NCBI chr17:34,173,787...34,190,952
Ensembl chr17:34,173,833...34,190,950
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|
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G
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Mrps16
|
mitochondrial ribosomal protein S16
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|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS | ClinVar Annotator: match by term: MRPS16-related condition
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OMIM CTD ClinVar |
PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 |
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NCBI chr15:3,967,809...3,970,211
Ensembl chr15:3,968,054...3,970,185
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|
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G
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Avil
|
advillin
|
|
ISO
|
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
|
ClinVar |
PMID:25741868 |
|
NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:64,711,403...64,729,436
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G
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Tsfm
|
Ts translation elongation factor, mitochondrial
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|
ISO
|
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25078778 PMID:25741868 PMID:27677415 PMID:28074886 PMID:28492532 PMID:29261183 PMID:30911037 PMID:31267352 PMID:33816677 PMID:38703036 More...
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NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:64,714,036...64,750,171
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|
|
G
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Pc
|
pyruvate carboxylase
|
|
ISO
|
ClinVar Annotator: match by term: Congenital lactic acidosis
|
ClinVar |
PMID:28492532 PMID:32581362 |
|
NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940
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G
|
Pet100
|
PET100 cytochrome c oxidase chaperone
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|
ISO
|
ClinVar Annotator: match by term: Congenital lactic acidosis
|
ClinVar |
PMID:25293719 PMID:25741868 |
|
NCBI chr12:6,477,703...6,480,435
Ensembl chr12:6,477,777...6,480,431
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G
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Ppp1r12b
|
protein phosphatase 1, regulatory subunit 12B
|
|
ISO
|
ClinVar Annotator: match by term: Congenital lactic acidosis
|
ClinVar |
|
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NCBI chr13:46,199,418...46,397,108
Ensembl chr13:48,751,477...48,948,922
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G
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Stxbp2
|
syntaxin binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Congenital lactic acidosis
|
ClinVar |
PMID:25293719 PMID:25741868 |
|
NCBI chr12:6,487,265...6,498,351
Ensembl chr12:6,487,297...6,504,212
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|
|
G
|
Dld
|
dihydrolipoamide dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:21996136 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 PMID:31334547 PMID:31683770 PMID:33092611 PMID:33306821 PMID:34426522 PMID:34684524 More...
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|
NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354
|
|
G
|
Slc26a3
|
solute carrier family 26 member 3
|
|
ISO
|
ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to
|
ClinVar |
PMID:8968745 PMID:9934985 PMID:28492532 |
|
NCBI chr 6:53,751,415...53,792,300
Ensembl chr 6:53,751,415...53,792,294
|
|
|
G
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Bcs1l
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
|
|
ISO ISS
|
ClinVar Annotator: match by term: GRACILE syndrome OMIM:603358 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20472482 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22991165 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 PMID:38703036 More...
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|
NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257
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|
|
G
|
Lars2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition
|
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866
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|
|
G
|
Apbb2
|
amyloid beta precursor protein binding family B member 2
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,849,638...42,232,930
Ensembl chr14:41,911,785...42,232,280
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|
G
|
Chrna9
|
cholinergic receptor nicotinic alpha 9 subunit
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,588,948...42,595,669
Ensembl chr14:42,588,948...42,595,669
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G
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Fam114a1
|
family with sequence similarity 114, member A1
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|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,629,349...43,699,800
Ensembl chr14:43,629,375...43,699,800
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|
G
|
Klb
|
klotho beta
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,253,963...43,304,532
Ensembl chr14:43,253,255...43,304,515
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|
G
|
Klhl5
|
kelch-like family member 5
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|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,497,915...43,565,833
Ensembl chr14:43,497,918...43,537,894
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|
G
|
Lias
|
lipoic acid synthetase
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: LIAS-related condition
|
OMIM ClinVar |
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:26934580 PMID:27923773 PMID:28492532 PMID:28817111 PMID:33562493 PMID:36680912 More...
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|
NCBI chr14:43,230,369...43,247,469
Ensembl chr14:43,230,375...43,247,423
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|
G
|
Limch1
|
LIM and calponin homology domains 1
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,466,433...41,779,477
Ensembl chr14:41,466,433...41,778,837
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G
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N4bp2
|
NEDD4 binding protein 2
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|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,696,415...42,819,535
Ensembl chr14:42,763,601...42,825,039
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G
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Nsun7
|
NOP2/Sun RNA methyltransferase family member 7
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,233,062...42,289,013
Ensembl chr14:42,233,062...42,288,958
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G
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Pds5a
|
PDS5 cohesin associated factor A
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,905,734...43,004,740
Ensembl chr14:42,905,328...43,004,740
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G
|
Phox2b
|
paired-like homeobox 2b
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494
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G
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Rbm47
|
RNA binding motif protein 47
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,407,226...42,545,304
Ensembl chr14:42,466,335...42,543,163
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G
|
Rfc1
|
replication factor C subunit 1
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026
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G
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Rhoh
|
ras homolog family member H
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|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,694,860...42,725,690
Ensembl chr14:42,693,413...42,749,967
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G
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Rpl9
|
ribosomal protein L9
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,247,536...43,250,784
Ensembl chr14:43,247,588...43,250,782 Ensembl chr 1:43,247,588...43,250,782
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G
|
Smim14
|
small integral membrane protein 14
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:42,783,361...42,829,762
Ensembl chr14:43,136,867...43,183,416
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|
G
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Tlr1
|
toll-like receptor 1
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|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,737,761...43,750,389
Ensembl chr14:43,740,379...43,756,243
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|
G
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Tlr10
|
toll-like receptor 10
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,758,940...43,768,352
Ensembl chr14:43,759,827...43,768,351
|
|
G
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Tlr6
|
toll-like receptor 6
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|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,715,809...43,727,019
Ensembl chr14:43,698,751...43,740,462
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|
G
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Tmem156
|
transmembrane protein 156
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,568,131...43,606,109
Ensembl chr14:43,577,023...43,606,109
|
|
G
|
Ube2k
|
ubiquitin-conjugating enzyme E2K
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,011,681...43,077,825
Ensembl chr14:43,011,681...43,072,462
|
|
G
|
Uchl1
|
ubiquitin C-terminal hydrolase L1
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417
|
|
G
|
Ugdh
|
UDP-glucose 6-dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,202,480...43,226,002
Ensembl chr14:43,202,356...43,226,629
|
|
G
|
Wdr19
|
WD repeat domain 19
|
|
ISO
|
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
|
ClinVar |
PMID:28492532 |
|
NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939
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|
|
G
|
Suclg1
|
succinate-CoA ligase GDP/ADP-forming subunit alpha
|
|
ISO
|
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 | ClinVar Annotator: match by term: SUCLG1-related condition
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17668387 PMID:19526370 PMID:20197121 PMID:20227526 PMID:20453710 PMID:20693550 PMID:21093335 PMID:21639866 PMID:22980518 PMID:25326635 PMID:25741868 PMID:26475597 PMID:26827111 PMID:27484306 PMID:27896121 PMID:28492532 PMID:29217198 PMID:29458409 PMID:30470562 PMID:30818899 PMID:31622506 PMID:33230783 PMID:34006472 PMID:34023347 PMID:34988976 PMID:35094435 PMID:38703036 More...
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|
NCBI chr 4:106,866,329...106,895,686
Ensembl chr 4:106,866,114...106,895,689
|
|
G
|
Suclg2
|
succinate-CoA ligase GDP-forming subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9
|
ClinVar |
|
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NCBI chr 4:129,623,833...129,893,937
Ensembl chr 4:129,623,834...129,937,296
|
|
|
G
|
Pnpla8
|
patatin-like phospholipase domain containing 8
|
|
ISO
|
ClinVar Annotator: match by term: PNPLA8-related condition CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:67,056,783...67,118,714
Ensembl chr 6:67,056,697...67,120,512
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G
|
Mpc1
|
mitochondrial pyruvate carrier 1
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ISO
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ClinVar Annotator: match by term: MPC1-related condition | ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency
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OMIM ClinVar |
PMID:12649063 PMID:22628558 PMID:25741868 PMID:28492532 |
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NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064
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G
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Iscu
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iron-sulfur cluster assembly enzyme
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ISO
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ClinVar Annotator: match by term: ISCU-related condition | ClinVar Annotator: match by term: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY | ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 PMID:21165651 PMID:22125086 PMID:24573684 PMID:25741868 PMID:28492532 PMID:30209894 More...
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NCBI chr12:48,512,852...48,518,696
Ensembl chr12:48,512,852...48,518,696
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G
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Adgrg2
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adhesion G protein-coupled receptor G2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:38,106,067...38,231,286
Ensembl chr X:38,106,067...38,231,331
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G
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Bclaf3
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BCLAF1 and THRAP3 family member 3
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:39,065,842...39,137,521
Ensembl chr X:39,072,840...39,137,448
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G
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Bend2
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BEN domain containing 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:36,997,518...37,093,363
Ensembl chr X:36,999,265...37,089,782
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G
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Cdkl5
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cyclin-dependent kinase-like 5
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:37,566,320...37,796,766
Ensembl chr X:37,566,378...37,796,760
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G
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Eif1ax
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eukaryotic translation initiation factor 1A, X-linked
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:39,307,320...39,322,023
Ensembl chr X:39,307,137...39,322,021
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G
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Map3k15
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mitogen-activated protein kinase kinase kinase 15
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25741868 PMID:28492532 PMID:31916079 More...
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NCBI chr X:38,522,143...38,667,746
Ensembl chr X:38,521,183...38,667,676
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G
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Map7d2
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MAP7 domain containing 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:39,181,091...39,296,814
Ensembl chr X:39,181,091...39,296,695
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G
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Nhs
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NHS actin remodeling regulator
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:36,185,067...36,524,711
Ensembl chr X:36,438,178...36,524,708
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G
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Pdha1
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pyruvate dehydrogenase E1 subunit alpha 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 PMID:1779625 PMID:1907799 PMID:1909401 PMID:1909778 PMID:2828359 PMID:3034892 PMID:3137520 PMID:7573035 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8024267 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8844217 PMID:8962591 PMID:9266390 PMID:9536098 PMID:9618178 PMID:9671272 PMID:9686362 PMID:9837815 PMID:10486093 PMID:10679936 PMID:10767328 PMID:10775534 PMID:11102541 PMID:11241048 PMID:11757583 PMID:12379317 PMID:12551913 PMID:14564667 PMID:15384102 PMID:15473177 PMID:16199547 PMID:16713755 PMID:16981164 PMID:17043409 PMID:17172462 PMID:17256798 PMID:17576681 PMID:18023225 PMID:18197404 PMID:19414485 PMID:19639391 PMID:19780792 PMID:19888300 PMID:20002125 PMID:20002461 PMID:20591708 PMID:20691944 PMID:20882036 PMID:20958858 PMID:21770923 PMID:21846590 PMID:21914562 PMID:22142326 PMID:22473288 PMID:22872100 PMID:23021068 PMID:23184456 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25356417 PMID:25495354 PMID:25582476 PMID:25590979 PMID:25741868 PMID:25741876 PMID:26467025 PMID:26633542 PMID:26865159 PMID:26987331 PMID:27896109 PMID:28252636 PMID:28492532 PMID:28584645 PMID:28639102 PMID:28918066 PMID:29286531 PMID:29756269 PMID:29758562 PMID:29882371 PMID:31069529 PMID:31618753 PMID:31658717 PMID:31673819 PMID:31916079 PMID:32005694 PMID:32445240 PMID:33092611 PMID:33204598 PMID:35620925 PMID:38177409 PMID:38703036 More...
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NCBI chr X:38,509,158...38,522,986
Ensembl chr X:38,509,084...38,522,536
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G
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Pdhx
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pyruvate dehydrogenase complex, component X
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905
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G
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Phka2
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phosphorylase kinase regulatory subunit alpha 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:37,979,629...38,102,656
Ensembl chr X:37,979,629...38,102,144
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G
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Ppef1
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protein phosphatase with EF-hand domain 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:37,803,204...37,960,378
Ensembl chr X:37,830,055...37,960,375
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G
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Rai2
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retinoic acid induced 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:36,580,406...36,642,943
Ensembl chr X:36,573,917...36,643,240
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G
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Rps6ka3
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ribosomal protein S6 kinase A3
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:39,325,926...39,432,017
Ensembl chr X:39,325,926...39,433,678
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G
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Rs1
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retinoschisin 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:37,771,135...37,800,894
Ensembl chr X:37,771,135...37,800,894
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G
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Scml1
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Scm polycomb group protein like 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:36,526,068...36,543,336
Ensembl chr X:36,526,068...36,544,450
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G
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Scml2
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Scm polycomb group protein like 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:37,331,893...37,486,465
Ensembl chr X:37,334,841...37,439,276
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G
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Sh3kbp1
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SH3 domain-containing kinase-binding protein 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
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ClinVar |
PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:28492532 PMID:31916079 More...
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NCBI chr X:38,686,530...39,031,658
Ensembl chr X:38,686,530...39,031,393
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G
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Alg9
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ALG9, alpha-1,2-mannosyltransferase
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054
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G
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Bco2
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beta-carotene oxygenase 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,778,571...59,803,597
Ensembl chr 8:59,778,575...59,799,168
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G
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Btg4
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BTG anti-proliferation factor 4
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,307,090...60,322,167
Ensembl chr 8:60,317,121...60,322,167
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G
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C8h11orf52
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similar to human chromosome 11 open reading frame 52
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,977,717...59,984,706
Ensembl chr 8:59,976,623...59,990,901
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G
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Cfap68
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cilia and flagella associated protein 68
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,004,034...60,009,782
Ensembl chr 8:60,004,034...60,009,667
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G
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Cryab
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crystallin, alpha B
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528
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G
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Dixdc1
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DIX domain containing 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:59,904,218...59,978,447
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G
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Dlat
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dihydrolipoamide S-acetyltransferase
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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OMIM CTD ClinVar |
PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 PMID:23021068 PMID:25741868 PMID:28492532 PMID:29093066 PMID:35094435 More...
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NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:59,868,214...59,900,818 Ensembl chr 1:59,868,214...59,900,818
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G
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Fdxacb1
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ferredoxin-fold anticodon binding domain containing 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,009,818...60,014,625
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G
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Hoatz
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HOATZ cilia and flagella associated protein
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,284,745...60,306,687
Ensembl chr 8:60,283,904...60,305,377
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G
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Hspb2
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heat shock protein family B (small) member 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,989,640...59,991,215
Ensembl chr 8:59,976,623...59,990,901
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G
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Il18
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interleukin 18
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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G
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Layn
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layilin
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,261,325...60,280,797
Ensembl chr 8:60,263,456...60,281,418
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G
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Mir34b
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microRNA 34b
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,306,609...60,306,692
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G
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Mir34c
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microRNA 34c
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,306,091...60,306,167
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G
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Nkapd1
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NKAP domain containing 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,852,037...59,863,295
Ensembl chr 8:59,852,726...59,863,181
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G
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Pih1d2
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PIH1 domain containing 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 8:59,863,271...59,871,465
Ensembl chr 8:59,862,899...59,887,927
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G
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Pou2af1
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POU class 2 homeobox associating factor 1
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,418,173...60,445,176
Ensembl chr 8:60,436,844...60,445,176
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G
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Pou2af3
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POU class 2 homeobox associating factor 3
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,484,596...60,493,475
Ensembl chr 8:60,484,596...60,493,821
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G
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Ppp2r1b
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protein phosphatase 2 scaffold subunit A beta
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:60,081,553...60,125,795
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G
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Pts
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6-pyruvoyl-tetrahydropterin synthase
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,767,234...59,774,265
Ensembl chr 8:59,765,185...59,774,265
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G
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Sdhd
|
succinate dehydrogenase complex subunit D
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641
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G
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Sik2
|
salt-inducible kinase 2
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:60,121,913...60,221,818
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G
|
Tex12
|
testis expressed 12
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
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ClinVar |
PMID:28492532 |
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NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:59,804,662...59,813,423
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G
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Timm8b
|
translocase of inner mitochondrial membrane 8 homolog B
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
|
ClinVar |
PMID:28492532 |
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NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:59,850,728...59,852,962
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G
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Apip
|
APAF1 interacting protein
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
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ClinVar |
PMID:25741868 |
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NCBI chr 3:109,886,919...109,913,295
Ensembl chr 3:109,886,953...109,915,862
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G
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Pdhx
|
pyruvate dehydrogenase complex, component X
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ISO
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ClinVar Annotator: match by term: PDHX-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 PMID:12557299 PMID:16566017 PMID:16904023 PMID:17152059 PMID:21914562 PMID:21937992 PMID:25087164 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31690835 PMID:34716721 More...
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NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905
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G
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Pdhb
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pyruvate dehydrogenase E1 subunit beta
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ISO
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ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:19,182,789...19,188,731
Ensembl chr15:19,181,208...19,188,976
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G
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Pdp1
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pyruvate dehydrogenase phosphatase catalytic subunit 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PDP1-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency
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OMIM CTD ClinVar |
PMID:15855260 PMID:19184109 PMID:25741868 PMID:28492532 PMID:31392110 |
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NCBI chr 5:30,245,699...30,252,494
Ensembl chr 5:30,242,704...30,253,960
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